These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 975888)

  • 21. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P; Saxena D; Joshi S; Phadke SR
    Indian J Pediatr; 2016 Mar; 83(3):258-60. PubMed ID: 26138576
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genetic linkage as a cause of clinical variation in inherited disorders.
    Berg K
    Cytogenet Cell Genet; 1978; 22(1-6):618-20. PubMed ID: 752553
    [No Abstract]   [Full Text] [Related]  

  • 23. The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
    Saugier-Veber P; Abadie V; Moncla A; Mathieu M; Piussan C; Turleau C; Mattei JF; Munnich A; Lyonnet S
    Am J Hum Genet; 1993 Jun; 52(6):1040-5. PubMed ID: 8503439
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Myopathy of Marinesco-Sjögren syndrome. Report of a case (author's transl)].
    López Hernández A; Barrios del Valle R
    Rev Invest Clin; 1974; 26(3):277-83. PubMed ID: 4445633
    [No Abstract]   [Full Text] [Related]  

  • 25. [Marinesco-Sjogren syndrome (personal observation and chromosome study of a case)].
    Gullo A; Cataldo F; Ficarra GG
    Pediatria (Napoli); 1972 Sep; 80(3):247-57. PubMed ID: 4680915
    [No Abstract]   [Full Text] [Related]  

  • 26. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
    Delague V; Bareil C; Bouvagnet P; Salem N; Chouery E; Loiselet J; Mégarbané A; Claustres M
    Neurogenetics; 2002 Mar; 4(1):23-7. PubMed ID: 12030328
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [3 cases of the Marinesco-Sjögren syndrome].
    Savettieri G; Serra S; Di Rosa AE; Daricello B; Dattola R; Giordano D
    Riv Neurol; 1979; 49(5):374-81. PubMed ID: 399700
    [No Abstract]   [Full Text] [Related]  

  • 28. Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder.
    Walker PD; Blitzer MG; Shapira E
    Neurology; 1985 Mar; 35(3):415-9. PubMed ID: 3974903
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia.
    Theile U
    Humangenetik; 1974 May; 22(2):91-118. PubMed ID: 4135782
    [No Abstract]   [Full Text] [Related]  

  • 30. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
    Jbour AK; Mubaidin AF; Till M; El-Shanti H; Hadidi A; Ajlouni KM
    J Med Genet; 2003 Jan; 40(1):e2. PubMed ID: 12525550
    [No Abstract]   [Full Text] [Related]  

  • 31. Norrie disease resulting from a gene deletion: clinical features and DNA studies.
    Donnai D; Mountford RC; Read AP
    J Med Genet; 1988 Feb; 25(2):73-8. PubMed ID: 3162283
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco.
    Superneau D; Wertelecki W; Zellweger H
    Am J Med Genet; 1985 Nov; 22(3):647-8. PubMed ID: 3904448
    [No Abstract]   [Full Text] [Related]  

  • 33. Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.
    Crawfurd MD; Harcourt RB; Shaw PA
    J Med Genet; 1979 Oct; 16(5):373-8. PubMed ID: 513084
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
    Seminara SB; Acierno JS; Abdulwahid NA; Crowley WF; Margolin DH
    J Clin Endocrinol Metab; 2002 Apr; 87(4):1607-12. PubMed ID: 11932290
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Sex-linked recessive congenital ataxia.
    Young ID; Moore JR; Tripp JH
    J Neurol Neurosurg Psychiatry; 1987 Sep; 50(9):1230-2. PubMed ID: 3668574
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Marinesco-Sjögren syndrome in a male with mild dysmorphism.
    Slavotinek A; Goldman J; Weisiger K; Kostiner D; Golabi M; Packman S; Wilcox W; Hoyme HE; Sherr E
    Am J Med Genet A; 2005 Mar; 133A(2):197-201. PubMed ID: 15633176
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia].
    Robin G; Jonard S; Vuillaume I; Devos D; Dewailly D
    Ann Endocrinol (Paris); 2005 Dec; 66(6):545-51. PubMed ID: 16357818
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Secondary amenorrhea in two sisters with hypogonadotropic hypogonadism and progressive cerebellar ataxia.
    Arlazoroff A; Rosenberg T; Gadoth N; Ramot Y; Klein C; Gilboa Y
    Brain Dev; 1989; 11(6):422-5. PubMed ID: 2618966
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
    Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M
    Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Marinesco-Sjögren syndrome associated with peripheral nerve involvement--report of three cases in a family (author's transl)].
    Yamanaga H; Ideta T; Okajima T; Morimoto K; Nagaki J
    Rinsho Shinkeigaku; 1980 May; 20(5):326-32. PubMed ID: 6250757
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.